Glutaric acidaemia type II (multiple Acyl-Coa dehydrogenation deficiency)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF03047371
Reference30 articles.
1. Beckmann, J. D., Frerman, F. E. and McKean, M. C. Inhibition of general acyl CoA dehydrogenase by electron transfer flavoprotein semiquinone.Biochem. Biophys. Res. Comtnun. 102 (1981) 1290–1294
2. Böhm, N., Uy, J., Kiebling, M. and Lehnert, W. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.Eur. J. Pediatr. 139 (1982) 60–65
3. Coudé, F. X., Ogier, H., Charpentier, C, Thomassin, G., Checoury, A., Amédée-Manesme, O., Saudubray, J. M. and Frézal, J. Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder.Hum. Genet. 59 (1981) 263–265
4. Dusheiko, G., Kew, M. C, Joffe, B. I., Lewin, J. R., Mantagos, S. and Tanaka, K. Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.N. Engl. J. Med. 301 (1979) 1405–1409
5. Goodman, S. I., McCabe, E. R. B., Fennessey, P. V. and Mace, J. W. Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.Pediatr. Res. 14 (1980) 12–17
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1. Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency;Endocrinología, Diabetes y Nutrición (English ed.);2023-06
2. Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II;Frontiers in Neurology;2023-01-27
3. Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype;Molecular Genetics and Metabolism Reports;2022-12
4. A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report;Italian Journal of Pediatrics;2022-09-05
5. Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency;Endocrinología, Diabetes y Nutrición;2022-06
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